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Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.

Clinical genetics - 1 Mar 2025

Poleg Tomer, Proskorovski-Ohayon Regina, Dolgin Vadim, Hadar Noam, Safran Amit, Agam Nadav, Jean Matan M, Freund Ofek, Gradstein Libe, Shelef Ilan, Sadaka Yair, Birk Ohad S

Abstract excerpt

Biallelic mutations in BRAT1 result in lethal neonatal rigidity and multifocal seizure syndrome and a milder neurodevelopmental disorder of cerebellar atrophy with or without seizures (NEDCAS, MIM 618056). Combining linkage analysis and whole-genome sequencing (WGS), we identified a novel deep intronic BRAT1 variant, NC_000007.14 (NM_152743.4):c.128-1585 T > G, in 3 siblings of a consanguineous Bedouin family...

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Identifiers

PMID: 39586739
DOI: 10.1111/cge.14653

Genes

BRAT1

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